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Cystic fibrosis

This is part of Rare diseases.

Diagnosis: Cystic fibrosis

Synonyms: CF, Cystic fibrosis of the pancreas, Mucoviscidosis

Innehåll


Date of publication: 2013-11-27
Version: 2.1

ICD 10 code

E84 

The disease

Cystic fibrosis (CF) is a hereditary disease where the glands which produce mucus do not function normally. Instead they produce excessively thick, viscous mucus, which causes problems mainly in the lungs and gastrointestinal tract and causes respiratory difficulties, lung infections and poor absorption of nutrients. Another sign of cystic fibrosis is unusually salty sweat.

The disease has been known since the Middle Ages, but it was not until the 1930's that the whole spectrum of symptoms was recognized. In 1938, American paediatrician Dorothy Andersen published an article describing the association between pancreatic function and symptoms from the lungs and the gastrointestinal tract. Other names for the disease are cystic fibrosis of the pancreas and mucoviscidosis.

Occurrence

Approximately 20 children are born annually with cystic fibrosis in Sweden. In the whole country there are currently around 650 people with the disease, which corresponds to approximately seven cases per 100,000 population.

Cause

Cystic fibrosis is caused by mutations (structural defects) in a gene on chromosome 7(7q31.2). This gene is named CFTR and it controls the formation of (codes for) a large protein, CFTR (cystic fibrosis transmembrane conductance regulator). The protein acts as a chloride channel, transporting chloride ions out of cells. It is located in membranes of cells lining various passageways in the body (epithelial cells), and in glands immediately below the mucous membranes (submucosal glands).

The chloride channel CFTR also regulates other ion channels in the cell and is believed to play an important role in the transportation of energy. Further functions have also been described. In cystic fibrosis, deficiencies in cellular chloride secretion and increased reabsorption of sodium are considered to impair the capacity of cells to bind water. This results in reduced quantities of fluid in mucus, for example in the respiratory tracts, making it thick and viscous.

The location of CFTR was identified in 1989. Currently (2013), over 1,700 mutations which can cause cystic fibrosis have been identified in this gene. Known mutations can be grouped according to type of mutation, location in the gene and their effects on CFTR function. Certain mutations are believed to cause more severe symptoms than others, but there is no clear connection between the mutation in the CFTR gene and the severity of the disease. However, as a rule the disease is milder in those individuals with a functioning pancreas. Other genetic and environmental factors, and the type of treatment, are also significant.

Heredity

In cystic fibrosis the pattern of inheritance is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent). In this case the child will have the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.

Symptoms

There are major variations in the nature and severity of symptoms of cystic fibrosis. The condition of those affected deteriorates progressively, but it is possible to slow down this progression. In the past it was unusual that those with the disease survived beyond childhood, but average life expectancy has risen in line with medical advances. In Sweden it is currently approximately 50 years of age, and is expected to rise further. Life expectancy is determined primarily by the degree of lung damage.

Viscous mucus causes problems mainly in the lungs where it causes infections and respiratory difficulties, and the gastrointestinal tract where it causes digestive problems. Other organs, including the pancreas, gallbladder and liver, may also be damaged. Individuals with cystic fibrosis also have unusually high levels of salt in their sweat, which can lead to salt deficiency when the patient perspires a lot. In the Swedish climate this is not usually a major problem.

The first sign of the disease may be when the first faeces of a neonate are so thick and viscous that they cannot be passed, causing an obstruction in a segment of the bowel (meconium ileus). This is followed by stomach problems including diarrhoea. In small children, the clearest symptoms of cystic fibrosis are often frequent respiratory infections including a stubborn dry cough and a cough which produces thick mucus.

The respiratory tract

In the lungs there is normally a thin, light layer of mucus which helps remove bacteria, viruses and fungal spores. The cilia (slender, hair-like protuberances that project from the cell body) transport mucus up the respiratory passages so that it can be coughed up and expelled. A person with cystic fibrosis has difficulty getting rid of the mucus he or she produces as it is more viscous than normal. This mucus also partially blocks the airways and causes breathing difficulties.

Mucous secretions are breeding grounds for bacteria which remain in the respiratory passages. Bacteria such as Staphylococcus aureus, Haemophilus influenzae and different strains of Pseudomonas can cause repeated attacks of pneumonia, which in the long term may damage lung tissue. Examples of other unusual bacteria which can cause pneumonia are Stenotrophomonas maltophilia, Alcaligenes xyloxidans, Burkholderia cepacia and atypical mycobacteria. In individuals with cystic fibrosis a common cold can cause complications in the form of serious bacterial infections.

Recurrent ear or sinus infections and nasal polyps can also be a sign of cystic fibrosis. Nasal polyps are swellings in the mucous membranes in the upper part of the nasal passages, and are not to be confused with the adenoids, masses of lymphoid tissue far back in children’s noses.

Gastrointestinal tract

The pancreas produces the enzymes necessary to break down food so that different substances can be taken up by the blood. Between 85 and 90 per cent of children born with cystic fibrosis have impaired pancreatic function, which affects digestion negatively.

Thick mucus blocks the passageways of the pancreas so that enzymes do not reach the gastrointestinal tract, impeding the normal breakdown of fat. Stools are frequent, large and fatty. An individual who has difficulty digesting fat also has difficulties absorbing the fat-soluble vitamins, A, D, E and K. The risks of developing vitamin deficiency, and malnutrition, are severe. The body’s production of essential fats may also be affected. Reduced bone density, and in some cases osteoporosis, may result from impaired absorption of calcium and vitamin D. Osteoporosis is associated with an increased risk of fractures.

Initially, breast-feeding can compensate for reduced pancreatic function and the child may gain weight satisfactorily, at least partly because breast milk contains an enzyme which breaks down fat. However, most children either lose or fail to gain weight and are always hungry, despite eating a lot. Eventually enzyme production stops completely.

For some, pancreatic function is not impaired until the person is a teenager or older, while for a few, pancreatic function remains normal throughout life. A few individuals who produce enzymes may be affected by inflammation of the pancreas (pancreatitis). This may be the first sign that pancreatic function is deteriorating. If pancreatic function is completely absent it is less likely that ducts will become irritated, or that inflammation will occur.

Diabetes

In cystic fibrosis, production of insulin in the pancreas may be impaired, resulting in a type of diabetes called cystic fibrosis-related diabetes mellitus. This affects 20 per cent of those who have the disease. It shares characteristics of Type 1, usually found in young people, as well as Type 2 diabetes. The average age when symptoms present is 20, but the risk of developing diabetes increases over time, and after this age it is estimated that approximately a quarter of all those with the disease experience this complication.

The liver

The liver is the largest gland in the body. It secretes bile into the gastrointestinal tract to aid the breaking down of the fat content of food. When the secretion from the biliary passage becomes more viscous the bile moves more slowly, which may in turn affect the liver. Approximately 4 per cent of people whose livers are affected go on to develop symptoms of liver failure (cirrhosis of the liver).

The kidneys

Kidney stones occur slightly more often in those with cystic fibrosis than in the general population. The kidneys of those with the disease eliminate different substances more quickly than those of healthy people. As a consequence, certain medication should be given in higher doses.

Fertility

In children with cystic fibrosis, puberty commences later than in healthy children. Previously it was thought that almost all men with cystic fibrosis were infertile, but it is now known that sperm production in the testicles is often normal, although thick mucus blocks the sperm-carrying ducts. Successful in vitro fertilisation has been carried out. In women, cervical secretions may be excessively viscous, making conception difficult. Artificial insemination or in vitro fertilization are options. Pregnant women with cystic fibrosis may experience impaired lung function. For this reason, frequent check-ups are important during pregnancy.

Salt balance

Individuals with cystic fibrosis lose a great deal of salt when they sweat. In the Swedish climate this is not commonly a problem for any but the youngest children, but in trips to warmer climates problems may arise. Stomach disorders and vomiting can also result in salt loss.

Diagnosis

The diagnosis is based on DNA tests, or on two sweat tests where both reveal abnormally high levels of chloride ions, combined with other symptoms of the disease. The clinical diagnosis should always be confirmed at one of Sweden’s four CF Centres, so that the right treatment can be given quickly. There are individuals with classic symptoms of the disease who, despite extensive DNA analysis, cannot be shown to have any known mutation to their CFTR-genes.

It is important that the family is offered genetic counselling when the diagnosis is given. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.

In a sweat test a mild electrical current draws a sweat stimulant into the skin. The sweat is collected and chloride levels analysed. The inside of the arms is used when adults and older children are tested, the back and thighs in the case of smaller children. The procedure is not painful but can cause a slight tingling or tickling sensation. A sweat test is carried out if an individual has symptoms which correspond to the disease or if cystic fibrosis exists in the family. In a few per cent of cases levels may be normal. Certain individuals with cystic fibrosis do not show clear symptoms until they reach adulthood.

Treatment/interventions

There is currently no cure, but it is possible to delay the onset of symptoms with the help of medication, good nutrition (including supplementary polyunsaturated fats), breathing exercises and physical training. Treatment has developed so that life expectancy for those with cystic fibrosis has increased significantly. However, it puts great demands both on the individual with the disease and those close to him or her. With the correct treatment an individual with the condition can live a relatively normal life into late middle age.

Breathing exercises

Breathing exercises are an important part of treatment and are drawn up in collaboration with a physiotherapist. Their aim is to loosen, transport and evacuate mucus, and exercises are carried out one or more times a day. They can last from between fifteen minutes to two hours depending on the severity of the disease.

Loosening of mucus
The main aim of treatment is to widen the respiratory airways and loosen mucus secretion so it can be coughed up. In this way damage to the lungs can be avoided. Expectorants and medication in the form of mixtures, tablets or inhalers which widen the airways are taken daily.

Transport of mucus
By controlling airflow and the volume of air in the lungs mucus secretion is loosened and transported towards the oral cavity. Methods vary depending on the age of the patient, ranging from different kinds of physical activity involving play, breathing exercises, and more advanced breathing techniques, with or without the use of breathing aids.
Evacuation of mucus
In order to clear mucus from the airways and to help the individual spit it out, different techniques are used. These include coughing or “huffing,” a cough-like technique.

Physical training

Individuals with cystic fibrosis require regular physical training, which must always be tailored to the severity of the illness and the age and interests of the patients. Physical training can be a good way to help expel mucus. It is important to make training fun, especially for children. Breathing exercises and physical training help maintain good lung function as well as maintaining or improving mobility, strength and general physical condition.

Antibiotics

Unlike healthy people, individuals with cystic fibrosis frequently have bacteria in the lower respiratory tract. For that reason antibiotics should be given freely, even in the case of viruses such as the common cold. At the first sign of deteriorating lung function, treatment should be intensified. Coughing and rapid breathing, increased amounts of expelled mucus, coloured mucus, failure to gain weight or loss of weight are examples of such signs of deterioration.

In Staphylococcus aureus and Hemophilus influenzae infections, high doses of antibiotics are given in the form of tablets or mixture for between 10 and 14 days. Treatment for different Pseudomonas bacteria is given intravenously as the medication cannot be absorbed via the gut. This treatment can be carried out at home. It is important that bacteriological tests are carried out according to specific routines so that the presence of uncommon or slow-growing bacteria is discovered. In cases of difficult-to-treat and resistant bacteria, long-term treatment with a number of highly specific antibiotics is necessary.

Vaccinations

It is important that vaccinations are given against infections which cause respiratory problems, as all such infections can damage the lungs.
Along with the usual vaccinations, individuals with cystic fibrosis should also be vaccinated against tuberculosis. As well as protecting against tuberculosis, it is thought that this gives a degree of protection against atypical mycobacteria. Annual influenza vaccinations should also be given.

Smoking

People with cystic fibrosis should not smoke and should not be exposed to smoke-filled environments. Smoking interferes with the uptake of oxygen and impairs the function of the cilia to carry away secretions and impurities. Children with the disease who have parents who smoke require longer courses of antibiotics than other children with the disease. Studies also show that people with cystic fibrosis feel worse when subjected to passive smoking.

Transplantation

Lung transplantations are carried out on people with cystic fibrosis who have severe lung damage. The results of transplantations are comparable to those of people with other diseases.

Gastrointestinal tract

People with cystic fibrosis have impaired pancreatic function and require supplements of pancreatic digestive enzyme at every meal. The dosage is tailored to the individual and is also dependent on the size of the meal and the amount of fat it contains. With the correct dosage the patient grows normally and has a maximum of one to two normal bowel movements a day.

Despite enzyme supplements it can be difficult for a person with cystic fibrosis to obtain sufficient fat-soluble vitamins from food. For this reason, extra vitamins should be given, above all Vitamins A and E. Individually-adjusted supplements of polyunsaturated fats are also necessary. As energy requirements are higher than those of healthy individuals, food should supply a great deal of energy and exceed standard nutritional recommendations.

Intestinal blockages which affect between 10 and 15 per cent of neonates with cystic fibrosis can in many cases be treated with a special enema (gastrografin-acetylcystein). In other cases an operation is necessary. DIOS (distal intestinal obstruction syndrome) is a similar condition affecting older individuals with cystic fibrosis. Gastrografin may also be used in these cases.

The liver

If there are signs of liver impairment a bile acid (ursodeoxycholic acid) can be given, which makes the bile more fluid. A liver transplantation may be considered for a few people with cystic fibrosis.

Diabetes

Cystic fibrosis-related diabetes mellitus often requires insulin treatment. People with the disease should adjust their food intake to the disease, but not adhere strictly to a diabetic diet.

Anaesthesia

There is always a risk when anaesthetizing a person with cystic fibrosis. It is important that people who are to be anaesthetized continue to take bronchodilators (to widen air passages) and expectorants (to loosen mucus) and receive extra physiotherapy both before and after the operation. Ideally the operation should be planned for a period when the patient is feeling as well as possible. It is also important that after operations to the chest or abdomen sufficient pain relief is available to enable the individual to cough up mucus. Certain pain-killers can cause nausea and constipation.

Other points

Living with a progressive disease is difficult, even today when treatment has improved and life expectancy has increased. Cystic fibrosis is a disease which demands a great deal of the patient and the people close to him or her. Regular check-ups at one of Sweden’s CF clinics, and local medical, social and psychological support at local clinics, are important.

A person with cystic fibrosis requires exact medical information and training in how the disease should be treated. Contact with dieticians, physiotherapists, psychologists and social worker is important. A social worker can give specific information on available support. The need for psychological support can be greater at certain ages or periods of life, such as when the individual starts school, moves into independent accommodation or experiences periods of ill-health.

Practical advice

Practical advice can be found on the Stockholm CF Centre’s homepage, www.karolinska.se/cf.

National and regional resources in Sweden

Following international models and definitions, Sweden has four CF Centres for children and adults. These are located in Stockholm, Gothenburg, Lund and Uppsala. Professional teams consist of a doctor, nurse, physiotherapist, dietician, social worker, psychologist and secretary (although there may be minor local variations). The Centres carry out research and development into cystic fibrosis and act as a centre of expertise for Swedish medical professionals.

Lund CF Centre (Adults), Skåne University Hospital, Lung and Allergy Department, SE-221 85 Lund, Sweden. Tel: +46 46 17 15 90, fax: +46 46 14 54 59.

Lund CF Centre (Children), Skåne University Hospital, Paediatric Department, SE-221 85 Lund, Sweden. Tel: +46 46 17 15 90, fax: +46 46 14 54 59, email cfbarnmedsus@skane.se.

Stockholm CF Centre (Children and Adults), B 59, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden Tel: +46 8 585 873 59, fax: +46 8 585 873 10.

Uppsala CF Centre, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 27 60, fax: +46 18 611 94 70.

Gothenburg CF Centre (Children), The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 56 24, fax: +46 31 343 51 84.

Gothenburg CF Centre (Adults), Sahlgrenska University Hospital/Sahlgrenska, SE-413 45 Gothenburg, Sweden. Tel: +44 31 343 98 78, fax: +46 31 41 93 30.

Clinical genetics departments at Swedish university hospitals.

Resource personnel

Lund CF Centre

Acting Senior Physician Helga Elidottir, Lund CF Centre, Skåne University Hospital, The Children’s Hospital in Lund, SE-221 85 Lund, Sweden. Tel: +46 46 17 82 63.

Senior Physician Lennart Hansson, Lund CF Centre, Skåne University Hospital, Lung and Allergy Department, SE-221 85 Lund, Sweden. Tel: +46 46 17 39 58, fax: +46 46 14 54 59.

Specialist Physician Ulrika Lindberg, Lund CF Centre, Skåne University Hospital, Lung and Allergy Department, SE-221 85 Lund, Sweden. Tel: +46 46 17 39 58, fax: +46 46 14 54 59.

Stockholm CF Centre

Senior Physician Isabelle de Monestrol, Stockholm CF Centre, B 59, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 80 000

Professor Lena Hjelte, Stockholm CF Centre, B 59, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 873 59, fax: +46 8 585 87 310.

Senior Physician Ferenc Karpati, Stockholm CF Centre, B 59, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 80 000. 

Specialist Physician Jelena Krjukova, Stockholm CF Centre, B 59, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Tel: +46 8 585 80 000.

Uppsala CF Centre

Senior Physician Annika Hollsing, Uppsala CF Centre, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 27 60, fax: +46 18 611 94 70.

Senior Physician Mary Kämpe, Uppsala CF Centre, Lung and Allergy Clinic, Uppsala University Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 00 00.

Specialist Physician Nikolaos Tsolakis, Uppsala CF Centre, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Tel: +46 18 611 27 60, fax: +46 18 611 94 70.

Gothenburg CF Centre

Senior Physician Marita Gilljam, Gothenburg CF Centre, Pulmonary Clinic, Sahlgrenska University Hospital/Sahlgrenska, SE-413 45 Gothenburg, Sweden. Tel: +46 31 342 10 00.

Senior Physician Petrea Ericson, Gothenburg CF Centre, Pulmonary Clinic, Sahlgrenska University Hospital/Sahlgrenska, SE-413 45 Gothenburg, Sweden. Tel: +46 31 342 10 00.

Senior Physician Anders Lindblad, Gothenburg CF Centre, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 343 51 84.

Senior Physician Karsten Kötz, Gothenburg CF Centre, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 343 51 84.

Norrland University Hospital

Senior Physician Helena Gärskog, Paediatric Clinic, Norrland University Hospital, SE-901 85 Umeå, Sweden. Tel: +46 90 785 00 00.

Courses, exchanges of experience, recreation

Every second year The Swedish Cystic Fibrosis Association (RfCF) organizes a day-long course for its members, people with cystic fibrosis and their relatives.

The Association also organizes separate, week-long, training and treatment courses in Sweden and abroad. Treatment weeks are held alternately for teenagers and adults with the disease and for children with their families.

Local branches of the Association hold information meetings, and other gatherings focusing on training, the exchange of ideas and social activities. Training and information are often given in collaboration with the nearest CF Centre or regional hospital.

Ågrenska is a national competence centre for rare diseases and its families' programme arranges stays for children and young people with disabilities and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. A number of programmes every year is also provided for adults with rare diseases. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

Organizations for the disabled/patient associations etc.

The Swedish Cystic Fibrosis Association (RfCF), Kålsängsgränd 10 D, SE-753 19 Uppsala, Sweden. Tel: +46 18 15 16 22, email: info@rfcf.se, www.rfcf.se.

Courses, exchanges of experience for personnel

Every second year The Swedish Cystic Fibrosis Association (Riksförbundet Cystisk Fibros, RfCF) organises a day-long course for its members, people with cystic fibrosis and their relatives. Health care professionals from the whole of Sweden are also welcome.

In collaboration with CF Centres the Association organizes training and information-sharing sessions for physiotherapists working with cystic fibrosis.

Every professional category has its own cystic fibrosis group in Sweden. For doctors it is the Working Group for CF, associated with The Swedish Society of Medicine; for nurses, the Nurses’ Council for CF; for physiotherapists, the Physiotherapists’ Council for CF; for dieticians, the Reference Group on CF within the Swedish National Dieticians’ Association; for psychologists and social workers, the Psycho-Social Council for CF. There are also working parties and councils in the Nordic countries.

CF Centres organise, individually or together, annual study days for different categories of healthcare professionals who work with people with cystic fibrosis. Other activities include courses on breathing, and other lectures and workshops. It is possible for visits to be arranged to CF Centres.

The staff of CF Centres enhance their professional expertise by attending congresses as well as pursuing their own research and development interests.

Research and development

All four Swedish CF Centres are very active in research and development. Several local, national, Scandinavian and international projects are on-going. For more information, contact the respective Centres.

A process is under way to increase the number of conditions included in the screening of newborns (Swedish PKU tests) to include a test for cystic fibrosis. This means that immunoreactive trypsinogen (IRT) is analysed and where there is a positive result a DNA analysis for genetic mutations associated with cystic fibrosis is carried out.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under, "Mer hos oss" in the column on the right-hand side.

The Swedish Cystic Fibrosis Association has comprehensive material on, for example, nutrition, breathing exercises and social support available. Brochures can be ordered from the Association or downloaded from the website. (See address under “Organizations for the disabled/patient associations.”)

Videos (In Swedish only

Att leva med cystisk fibros (främst för tonåringar och vuxna). 1995.

Cystisk fibros - en del av vårt liv. 2004.

Websites

The Swedish Cystic Fibrosis Association web page: www.rfcf.se

The Swedish Society of Medicine has a working group for CF: www3.svls.se/sektioner/cf 

Stockholms CF-center, www.karolinska.se/cf

European Cystic Fibrosis Society, www.ecfs.eu

Other information

Intravenös antibiotikabehandling I hemmet. (In Swedish only.) An instruction video and brochure can be ordered from any CF Centre. See addresses under the heading “National and Regional Resources in Sweden.”

The Ågrenska National Competence Centre for Rare .Diseases has published a newsletter on cystic fibrosis, nr 443 (2013). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. They can be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 3191 19 79, email: agrenska@agrenska.se. Material for printing is available on www.agrenska.se.

Literature

Articles

Brennan AL, Geddes DM, Gyi KM, Baker EH. Clinical importance of cystic fibrosis-related diabetes. J Cyst Fibros 2004; 3: 209-222.

Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006; 173: 475-482.

De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J et al. For the European Diagnostic Working Group. (L Hjelte m fl). Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006; 61: 627-635.

Doring G, Flume P, Heijerman H, Elborn S. Treatment of lung infection in patients with cystic fibrosis: current and future strategies. J Cyst Fibrosis 2012; 11 461-479.

Flume P, O’Sullivan BP, Robinson KA, Goss CH, Mogayzel PJ jr, Willey-Courand DB et al.Cystic fibrosis pulmonary guidelines. Am J Respir Crit Care Med 2007; 176: 957-969.

Gibson RL, Burns JL, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med 2003; 168: 918-951.

Goubau C, Wilschanski M, Skalická V, Lebecque P, Southern KW, Sermet I et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009; 64: 683-691.

Kerem E, Conway S, Elborn S, Heijerman H. Consensus Committee. Standards of care for patients with cystic fibrosis: a European consensus. J Cyst Fibros 2005; 4: 7-26.

Modolell I, Guarner L, Malagelada JR. Digestive system involvement in cystic fibrosis. Pancreatology 2002; 2: 12-16.

Moran A, Hardin D, Rodman D, Allen HF, Beall RJ, Borowitz D et al. Diagnosis, screening and management of cystic fibrosis related diabetes mellitus. Diabetes Res Clin Pract 1999; 45: 61-73.

O’Sullivan BP, Freedman SD. Cystic Fibrosis. Lancet 2009; 373: 1891-1904.

Quon BS, Aitken ML. Cystic fibrosis: what to expect now in the early adult years. Paediatr Respir Rev 2012; 13: 206-214.

Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998; 132: 589-595.

Sinaasapel M, Stern M, Littlewood J, Wolfe S, Steinkamp G, Heijerman HG et al. Nutrition in patients with cystic fibrosis: a European Consensus. J Cyst Fibros 2002; 1: 51-75.

Sokol RZ. Infertility in men with cystic fibrosis. Curr Opin Pulm Med 2001; 7: 421-426.

Southern KW, Mérelle MM, Dankert-Roelse JE, Nagelkerke AD. Newborn screening for cystic fibrosis. Cochrane Database Syst Rev 2009; CD 001402.

Wagener JS, Sontag MK, Sagel SD, Accurso FJ. Update on newborn screening for cystic fibrosis. Curr Opin Pulm Med 2004; 10; 500-504.

Yankaskas J, Marshall B, Sufian B, Simon RH, Rodman D. Cystic fibrosis adult care: consensus conferens report. Chest 2004; 125: 1-39.

Reports

European Cystic Fibrosis Society (ECFS) “Consensus reports” are usually free, downloadable and available at: www.ecfs.eu/publications/consensus_reports.

Books

Appel MA. Cystic Fibrosis: The ultimate teen guide (it happened to me). Scarecrow press; 2006.

Bluebond-Langner M. In the shadow of illness. Parents and siblings of chronically ill child. Princeton, New Jersey: Princeton University Press; 1996.

Bluebond-Langner M, Lask B, Angst DB (Eds). Psychosocial aspects of cystic fibrosis: London: Edward Arnold Publishers; 2001.

Castellani C, Elborn S, Heijerman H, editors. Healthcare issues and challenges in adolescents with cystic fibrosis. European Cystic Fibrosis Society; 2012.

Hodson E, Geddes DM. Cystic fibrosis. 3nd edition, London: (London: Arnold; Copublished New York: Oxford University Press Inc;) Hodder education; 2007.

Orenstein DM: Cystic fibrosis. A guide for patient and family. Lippincott Willams & Wilkins; 2011.

Yankaskas JR, Knowles, MR. Cystic fibrosis in adults. Philadelphia: Lippincott-Raven Publishers; 1999.

Database references

OMIM (Online Mendelian Inheritance in Man)
www.ncbi.nlm.nih.gov/omim 
Search: cystic fibrosis, cf <

GeneReviews (University of Washington)
www.genetests.org (select "GeneReviews", then "Titles")
Search: CFTR-related disorders

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Lena Hjelte, Stockholm CF Centre, Astrid Lindgren Children's Hospital, Sweden.

Marita Gilljam, specialist physician in pulmonary medicine and secretary of the Working Group on Cystic Fibrosis has, in collaboration with Lena Hjelte, edited this material.

The relevant oganizations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2013-11-27
Version: 2.1
Publication date of Swedish version: 2013-06-03

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.

 

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.